Enzyme Replacement Therapy

Ragazzi coi muscoli Un enzima oltre la barriera (ematoencefalica) Una epatite smidollata Rotondità Invaginazione e analgosedazione: mai senza! Neutropenia autoimmune: tranquilli ma attenti Le Giornate di Medico e Bambino

2026/2 — pag. 77-78 — DOI

Un caso di mucopolisaccaridosi con un possibile lieto fine

Traunero A

2025/5 — pag. 125-126 — DOI

A 4-year-old girl with cognitive delay, behavioural disorders and coarse facial features was diagnosed with mucopolysaccharidosis type IIIA (MPS IIIA or Sanfilippo syndrome) following a targeted clinical and genetic evaluation. From early infancy, sh...

IperCKemia asintomatica: la malattia di Pompe late-onset

Borelli E, Casciana ML, Salemi C, Sordelli S, Fasoli S

2021/4 — pag. 105-108 — DOI

The paper reports the case of a 7-year-old boy who presented with elevated alanine and aspartate transaminases. Further investigations demonstrated elevated creatine kinase (CK), so an underlying metabolic disorder was investigated even in absence of...

Sindrome di Morquio e sferocitosi ereditaria

S.M.C. Gramaglia, M. Lo Presti, C. Casà, G. Gramaglia

2020/10 — pag. 248-251 — DOI

Metabolic diseases are rare genetic conditions in the paediatric age. The diagnostic process is often complex and the diagnosis comes even years after the onset of symptoms. The article presents the only documented case of Morquio syndrome and heredi...

Le sfide della Medicina contemporanea

S. Maitz, A. Biondi

2018/10 — pag. 635

Diagnosi di malattia di Pompe nel neonato

C. Amador, M. Sacchini, E. Agostini, E. Procopio, E. Laudani, P. Fiorini

2014/6

Pompe disease is an autosomal recessive storage disorder caused by a deficiency in the enzyme α-glucosidase, resulting in intralysosomal glycogen accumulation in skeletal and cardiac muscle. The classic infantile form is characterized by progres...

A volte ritornano... (e hanno pure ragione)

S. Ciccone, M. Giovannini, C. Gelli

2013/3

La malattia di Anderson-Fabry in età pediatrica

V.I. Guerci, M.G. Pittis, G. Ciana, et al.

2003/5 — pag. 309

Fabry disease is an X-linked, recessive inborn error of glycosphingolipid metabolism resulting from deficient alpha-galactosidase A activity. The codifying gene has been mapped in position Xq22.1 and more than 150 mutations are known, most of them ...

Caratterizzazione genetica e terapia enzimatica sostitutiva nella forma neurologica acuta della malattia di Gaucher

G. Ciana, C. Martini, M. Romano, B. Bembi

2002/2

Caratterizzazione genetica e terapia enzimatica sostitutiva nella forma neurologica acuta della malattia di Gaucher

2002/2 — pag. 123-124

The substitutive enzyme-based therapy of the Gaucher’s disease type 2 with a near zero enzymatic activity improved somatic manifestations, but did not affect neurological ones....

Malattia di Fabry: trattamento con a-galactosidasi A

G. Bartolozzi

2001/7

Un caso di leucodistrofia metacromatica tardo- infantile ad esordio simil-autistico

R. Festa, P. Pisano , M. Scalone, M.T. Serpico

2001/5

Uso di estratti pancreatici e colonopatia fibrosante nella fibrosi cistica

G. Taccetti

1999/6